[The genetic diagnostics of mutations UGT1A1 in practice of modern medicine.].

The detection of mutations of the gene of UDF-glucuronyltransferase A1 (UGT1A1) has an important practical value. The carriers of mutant genotypes, mainly *28/*28, are characterized by a reduced function of glucuronidation and excretion of a number of endogenous and exogenous toxins. A precise association of particular forms of benign hyperbilirubinemia (especially Gilbert's syndrome) with mutations in promoter and exonic areas of UGT1A1 is established.